MUSK blocking peptide

MUSK Antibody (C-term) Blocking Peptide

• Gene Names: MUSK; CMS9; FADS
• Synonyms: MUSK; MUSK Antibody (C-term) Blocking Peptide; Muscle; skeletal receptor tyrosine-protein kinase; Muscle-specific tyrosine-protein kinase receptor; MuSK; Muscle-specific kinase receptor; MUSK blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 844~859 of human MUSK.
• Form/Format: The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.
• Sequence Length: 869

• Cellular Location: Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein. Note: Localizes to the postsynaptic cell membrane of the neuromuscular junction.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for MUSK blocking peptide

Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).

NCBI and Uniprot Product Information

• NCBI GI #: 50400806
• NCBI GeneID: 4593
• UniProt Accession #: O15146; Q32MJ8; Q32MJ9; Q5VZW7; Q5VZW8
• Molecular Weight: 86,425 Da
• NCBI Official Full Name: Muscle, skeletal receptor tyrosine-protein kinase
• NCBI Official Synonym Full Names: muscle associated receptor tyrosine kinase
• NCBI Official Symbol: MUSK
• NCBI Official Synonym Symbols: CMS9; FADS
• NCBI Protein Information: muscle, skeletal receptor tyrosine-protein kinase
• UniProt Protein Name: Muscle, skeletal receptor tyrosine-protein kinase
• Protein Family: Muskelin
• UniProt Gene Name: MUSK
• UniProt Synonym Gene Names: MuSK; Muscle-specific kinase receptor
• UniProt Entry Name: MUSK_HUMAN

NCBI Description

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

Uniprot Description

MUSK: a receptor tyrosine kinase that is essential for the establishment and maintenance of the neuromuscular junction (NMJ). Its activation by agrin, a neuronally derived heparan-sulfate proteoglycan, and the agrin receptor (LRP4), leads to clustering of acetylcholine receptors on the postsynaptic side of the NMJ. Its activation by agrin requires Dok7, which interacts with the cytoplasmic portion of MuSK and activates its tyrosine kinase activity.

Protein type: Kinase, protein; EC 2.7.10.1; Protein kinase, TK; Membrane protein, integral; Protein kinase, tyrosine (receptor); TK group; Musk family

Chromosomal Location of Human Ortholog: 9q31.3-q32

Cellular Component: integral to plasma membrane; neuromuscular junction; postsynaptic membrane; receptor complex

Molecular Function: protein binding; protein-tyrosine kinase activity

Biological Process: memory; neuromuscular junction development; positive regulation of protein amino acid phosphorylation; protein amino acid autophosphorylation; regulation of synaptic growth at neuromuscular junction; transmembrane receptor protein tyrosine kinase signaling pathway

Disease: Fetal Akinesia Deformation Sequence; Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency